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6 Lessons to Learn About the Genotyping Process

A genotype can be thought of as the “map” of an individual’s genetic code. These “maps” are one of several factors that determine the characteristics of all living things.

When we think of genotyping human beings, two processes might come to mind. One is the medical application of genotyping that tells an individual what their risk for a particular inherited disease might be. The other application that often comes to mind is the commercial transaction in which people send in a DNA sample to have it tested to see which part of the world their ancestors most likely came from. If you’ve recently come across genotyping in your everyday life, you may find these six genotyping facts interesting.

Cornell University researcher Ray Wu developed the first method for sequencing DNA in 1970. Research progressed slowly at first; a specific species of bacteria became the first organism to have its full genome sequenced in 1977. The human genome was first sequenced in 2001.

At least they will for some patients whose health care facilities adapt technology being developed by Fujitsu. While the Japanese technology firm isn’t the only one attempting to apply artificial intelligence (AI) to human health care, it has made a well-defined effort to make a name for itself in the field. Fujitsu’s AI checks the patient’s DNA sequence, medical history, and lifestyle information against a vast medical database. This allows it to help doctors and other health care professionals make diagnoses.

Neither does the absence of a certain genetic marker mean you’re guaranteed to avoid the disease associated with it. Genes are only one part of a complex process that leads up to the development of a disease in a human being. Environmental factors also have an influence.

Commercial genomics test kits can test for the genes related to celiac disease, late-onset Alzheimer’s disease, Parkinson’s disease, and other conditions. Seeing these alarming words in the test results may scare some people. It’s important to understand that there is far from a 1-to-1 relationship between the gene and the disease.

Researchers in Finland looked at the genetic profiles of almost 900 people who were convicted of violent crimes. They found two genes, called CDH13 and MAOA, that each have variants associated with individuals who have committed ten or more violent crimes. Researchers extrapolated that 5-10% of the violent crimes committed in Finland have some correlation with these particular variants of CDH13 and MAOA.

BRCA1 is a gene that has a certain variant correlated with a much higher than average risk of aggressive breast and ovarian cancers. Perhaps the world’s most high-profile carrier of the BRCA1 gene is actress/director Angelina Jolie, who had a preventive double mastectomy. The gene variant linked to cancers is relatively rare, affecting only one in about 400 women.

Genomic testing to sequence a human being’s entire DNA map cost approximately $1,000 as of 2013. The test for BRCA1, a single gene, has a disproportionate “list price” of $4,000. Commercial genomics testing that checks for a battery of 120 disease-linked genes, in comparison, is a bargain at $99. While the majority of insurance plans pay a percentage of the cost of the BRCA1 test, that still leaves insurance companies, including Medicare and Medicaid, on the hook for the expensive test.

6. You May Need to Prepare Yourself Emotionally for Genotyping.

Some genes that can be detected by commercial genotyping kits are associated with diseases for which there are no cures. Late-onset Alzheimer’s disease and Parkinson’s disease are two examples of these. People who’ve had the testing done sometimes wish they hadn’t, feeling they were better off not knowing their risk for an incurable disease. Serious mental health conditions such as anxiety and depression have even been linked to genetic testing.

If you have any questions or concerns about the result of a genotyping test, make an appointment to discuss it with your health care provider. Further testing can help clarify your individual risk in some cases and in a few cases may even rule out the possibility of a particular disorder. If needed, your health care provider can recommend a counselor who can help you understand and manage your feelings and expectations.